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Connect your patients with rare disease resources

By Kimber Blackwell, MPAS, PA-C
Indiana Hemophilia & Thrombosis Center

You had a 1 in 365 chance of having your exact birthday, assuming it’s not on Leap Day. If your birthday is on Leap Day—the rarest day on the calendar—your odds were 1 in 1,461.

The rarity of Leap Day is exactly why a movement on rare diseases—Rare Disease Day—selected the last day of February to raise global awareness about uncommon conditions. Rare Disease Day is celebrated every three years on February 28, and on February 29 every four years.

According to, a disease is considered rare if it affects less than 1 in 2,000 people.

We all know that unlike rare conditions, common disorders tend to have a straightforward path to diagnosis. If a patient has allergies, for example, symptoms are usually obvious and prompt a visit to a primary care provider. Testing for common allergies tends to be very accessible, typically leading to a timely and accurate diagnosis and effective treatment plan.

But for people living with a rare condition, this isn’t always the case.

Symptoms don’t always show the whole picture in rare diseases, even after testing and analysis. Well-meaning and seasoned primary care providers and subspecialists don’t always have the proper expertise to correctly identify or treat rare conditions. The limited amount of available scientific knowledge can be a roadblock, and waiting can be a scary and expensive road for patients looking for answers and relief.

I’m a PA in hematology, and my clinic sees patients from all over Indiana and across the globe living with rare—and sometimes ultra-rare—bleeding and blood conditions. Patients with Hemophilia, PAI-1, Plasminogen Deficiency, Hereditary Hemorrhagic Telangiectasia (HHT), G6PD, Sickle Cell Disease and Thalassemia are diagnosed and treated at our center. A common theme we hear is the stress their conditions have brought to their lives, including the uncertainty and complicated journey that eventually led them to our office. We also commonly see their relief after accessing necessary and life-saving treatments.

Relief for people living with a rare disease should not be far from reach. These patients often need more than clinical treatment, they need a community of peers and resources to support them in all aspects of life beyond the clinical setting.

Please remember that if you encounter a patient with a rare disease, that many rare conditions are supported by advocacy groups and can be found through websites like The National Institutes of Health is also a valuable resource. Visit for extensive information on rare diseases, including a directory of advocacy organizations.

Encourage your patients to remain steadfast as they search for answers for their or their loved one’s health concerns. Your encouragement and help in connecting them with resources could significantly and positively affect their outcomes.

Kimber Blackwell MPAS, PA-C, is a physician assistant at the Indiana Hemophilia & Thrombosis Center in Indianapolis. In addition to working with bleeding and blood disorder patients—particularly with Sickle Cell Disease—Kimber participates in education efforts for U.S. hemophilia treatment center providers and works extensively on national bleeding disorder advocacy initiatives.

HHT: Underdiagnosed, but what is it?

By: Magdalena Lewandowska, MD

Adult Hematologist-Oncologist

Indiana Hemophilia & Thrombosis Center

About 1 in 5,000 people are affected by Hereditary Hemorrhagic Telangiectasia (HHT), a rare and underdiagnosed vascular disorder.  Advanced Practice Practitioners (APPs) are in a position to be able to help identify patients with HHT and direct them to receive disease-specific care, which may be lifesaving.

HHT, also known as Osler-Weber-Rendu Syndrome, is an autosomal dominant genetic disorder that results in abnormal formation of blood vessels, leading to symptoms such as:

  • Nosebleeds
  • Skin and oral telangiectasia (visible red spots)
  • Arteriovenous malformations (AVMs) in various organs, such as lungs, brain, and liver
  • Iron deficiency anemia

Many patients experience delay in diagnosis and do not receive appropriate testing or treatment in a timely manner. Left untreated, AVMs caused by HHT may result in bleeding, stroke, brain abscesses, heart failure, and even death.

While there is not yet a cure for HHT, early diagnosis and screening tests can improve outcomes. 90% of people with the disease do not currently know they have it because of a lack of awareness. Globally, an estimated 1.4 million people are living with HHT, which presents equally in persons of all genders, races, and ethnicities.

David L. is an Indianapolis-area resident living with the condition, and he was first referred to seek treatment in Chicago. His heavy daily nosebleeds and lengthy travel for care were burdens on work and family life, until he learned about the Indiana Hemophilia and Thrombosis Center (IHTC) in Indianapolis, which is home to the state’s only HHT Clinic.

The global patient advocacy group, CureHHT, has designated IHTC an HHT-HTC Treatment Center through a program funded by the Centers for Disease Control (CDC). The program has helped identify 150 patients living with HHT in the state of Indiana. The HHT-HTC Treatment Center at IHTC takes a multidisciplinary approach to screening, diagnosis, and management of the disease. Led by adult and pediatric hematologists, an integrated team of specialists provides lifelong, comprehensive care for patients with HHT.

HHT-related symptoms vary between individuals, and patients may need referrals to otolaryngology, interventional radiology, pulmonology, gastroenterology, neurosurgery, cardiology, or other specialists.  IHTC brings patients access to various subspecialists with HHT specific expertise. In addition, a multidisciplinary team is available to address the whole-life impact HHT may have on patients with HHT, including physical therapists, dietitians, dental hygienists, social workers, and academic/career counselors.

Patients like David are treated for their condition locally, and with the burdens of travel off their plates they can focus on other aspects of life with the help of IHTC’s multidisciplinary team. In fact, now that his nosebleeds are under control and he is able to focus on his career, David is finally pursuing his dream of becoming a licensed educator and is able to spend more time with his son.

HHT is a hereditary disease, and IHTC provides genetic counseling, testing, and screening for patients’ at-risk relatives. The story of Carmel, Ind., residents Case and Eve is an excellent testament to the impact that may arise from testing at-risk family members. Joseph was diagnosed with HHT after a serious health emergency, which led to the diagnosis of his children through genetic testing.  His son, Case, was found to have a large lung AVM after undergoing HHT-specific screening, which was embolized before any complications arose. Left untreated, large pulmonary AVMs can lead to brain abscess, stroke, and respiratory compromise.

The specialists at IHTC encourage everyone who takes care of patients—including APPs—to watch out for potential signs of HHT. Referring patients with suspected cases for screening can help ensure an early diagnosis for those who have it—and a successful treatment course.

Telangiectasias are malformations of blood vessels that present as small red dots, and are commonly found on the lips, tongue, face and hands. A common sign of HHT is skin and mucosal telangiectasia

• Presents as small red/purple pinpoint spots with numbers increasing with age

• May not be visible or easily identified until someone has reached their thirties or forties

“hereditary-hemorrhagic-telangiectasia-62558.jpg”. Copyright © 2019 OMICS International – Open Access Publisher. Reproduced under Creative Commons Attribution 4.0 International (CC BY 4.0). Accessed May 6, 2019 at:

Dr. Magdalena Lewandowska is an adult hematologist at the Indiana Hemophilia & Thrombosis Center (IHTC) in Indianapolis. Dr. Lewandowska leads IHTC’s HHT Clinic, as well as the center’s Girls & Women Only (GO) Clinic—Indiana’s only dedicated clinic for adolescent girls and adult women with bleeding or clotting disorders.


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